democratizing the genome
DESCRIPTION
DIYgenomics (www.DIYgenomics.org) is a new platform bringing citizen scientists together to run peer cohort research studies and conduct novel research linking genetic data and physical biomarkers. Some norms are developing in response to the variety of community-based research issues that arise such as adaptive studies, informed consent, security, anonymity, and study design.TRANSCRIPT
Democratizing the Genome
Melanie Swan Founder
DIYgenomics+1-650-681-9482
@DIYgenomics www.DIYgenomics.org
June 12, 2010 H+ Summit, Harvard University
Slides: http://slideshare.net/LaBlogga/slideshows
2June 12, 2010DIYgenomics.org
Summary
DNA sequencing is moving faster than any other technology
Explosion in the amount of biological information
Citizen scientists are critical in discovering and implementing new findings
Tools are now available for genomic citizen scientists
Image credit: http://www-nmr.cabm.rutgers.edu/photogallery/proteins/gif/dna.gif
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We are standing in a new era
1999-2009: cost of DNA sequencing decreased 14,000x. April 1, 2010.
Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif Dec. 14, 2009
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A new construct of biocitizen identity
Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525, Figure 1.
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1. Rapid declines in the cost of DNA
sequencing
Confluence of factors shaping DIYgenomics
4. Social movements:
•DIYbio•Quantified Self•Open Science
3. Web 2.0 and Social Networking
2. Big data era:1 zettabyte
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3rd and 4th generation sequencing arrives3rd Gen: Sequencing by Synthesis
2nd Gen: Parallelized sequencing
1st Gen: Sanger Sequencing
4th Gen: Electronic Synthesis
Sources: http://www.genomicseducation.ca/files/images/information_articles/sequencing.gif, http://www.wellcome.ac.uk/News/2009/Features/WTX056032.htm,http://www.pacificbiosciences.com/video_lg.html, http://www.nanoporetech.com/sequences
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Unbounded opportunity: read and write DNA
Synthetic cell created Bacterial genome built from
scratch and booted to life
Image credit: http://www.guardian.co.uk/science/2010/may/20/craig-venter-synthetic-life-form
May 22, 2010
Source: Gibson DG et al. Creation of a Bacterial Cell Controlled by a Chemically Synthesized Genome. Science. 2010 May 20.
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DIYgenomics citizen science study structure
Genotype
MTHFR SNPs:
rs1801133 (A/G)
rs1801131 (A/G)
Phenotype
Blood tests:
B-12 and
Homocysteine
Intervention
1. B-complex
2. L-methylfolate
3. B-complex + L-methylfolate
Findings
Analyze, explore, implement, share, and
publish
Investigate genotype-phenotype linkage and apply interventions to improve phenotypic outcomes
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25+ DIYgenomics studies outlined
Health genomics Aging (apply BU centenarian study findings) Neuroplasticity Cholesterol management Cancer analysis Macular degeneration
Behavioral genomics Productivity, concentration and focus Bully/victim predisposition Orchid/dandelion personality predisposition Risk-taking/novelty-seeking behavior
Source: http://diygenomics.pbworks.com
Image credit: http://www.tigerteamconsulting.com/TTC_Site/sectors_binf.jsp
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Personal genome analysis tools
Sample data
CCTTAGCCTT
Web & mobile apps: health risk and drug response
Risk for top 20 Health Conditions
Response to 250 Drugs
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DIYgenomics Citizen Science – Join Us!
Participate in a study
Organize a study on our platform
Contribute your data
Innovate blood tests 2.0 and interventions 2.0 (synthetic biology)
Become an ecosystem partnerImage credit: http://www.uchsc.edu/vivat/2006/September2006/images/DNA_strand.jpg
Thank you!
Melanie SwanFounder
DIYgenomics+1-650-681-9482
@DIYgenomicswww.DIYgenomics.org
Slides: http://slideshare.net/LaBlogga/slideshows
Creative Commons 3.0 license
Collaborators:
Raymond McCauley
Lucymarie Mantese
Marat Nepomnyashy
Roland Parnaso
Aaron Vollrath
Lawrence S. Wong
Crowd-sourced clinical trialsPersonal genome apps